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Hameed Marya,Siddiqui Fatima,Khan Muhammad Khuzzaim,Tadisetty Sindhura,Gangishetti Prasanna Kumar 대한뇌신경재활학회 2023 뇌신경재활 Vol.16 No.3
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder characterized by progressive motor symptoms, such as dystonia and spasticity. Classical PKAN is the most common subtype of neurodegeneration with brain iron accumulation (NBIA). Currently, there is no established treatment for PKAN. However, baclofen and botulinum toxin have been reported to improve motor symptoms and ease care in these patients. Additionally, Deferiprone is a well-tolerated iron chelator that has been shown to be effective in reducing brain iron accumulation. In this case report, we present the case of a seven-year-old boy who presented to our ward with spastic gait and extrapyramidal signs. Brain magnetic resonance imaging was performed, which showed features of neurodegeneration secondary to brain iron accumulation with a specific appearance of the eye-of-the-tiger sign. Genetic testing was positive for a homozygous mutation in PANK2, and the diagnosis of early-stage classical PKAN was made. This case report highlights the potent efficacy of baclofen, botulinum toxin, and deferiprone in slowing down the disease progression at an early stage and improving the severity of symptoms.